Hyperprolinemia Type I
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hyperprolinemia Type I is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Two types of hyperprolinemia are recognized by physicians and clinical researchers. Each represents an inherited inborn error of metabolism involving the amino acid, proline. Proline is abundant in nature and readily found in a variety of foods.
Hyperprolinemia Type I (HP-I) is characterized by abnormally high levels of proline in the blood. The high level of blood proline is the result of a deficiency of the enzyme proline oxidase, which is essential to the normal breakdown (metabolism) of proline. There are often no clinical manifestations of HP-1.
Hyperprolinemia II (HP-II) results from the deficiency of another enzyme and also results in high blood proline levels, as well as other more severe clinical manifestations than are seen in HP-I. Mild mental retardation and convulsions are commonly associated with HP-II.
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Last Updated: 3/23/2008
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